Results 131 to 140 of about 16,445 (315)

Chromosomal Microarray Analysis Supplements Exome Sequencing to Diagnose Children with Suspected Inborn Errors of Immunity [PDF]

, 2022
Breanna Beers, Morgan Similuk, Rajarshi Ghosh, Bryce A. Seifert, Leila Jamal, Michael Kamen, Michael Setzer, Colleen Jodarski, Rylee Duncan, Devin Hunt, Madison Mixer, Wenjia Cao, Weimin Bi, Daniel Veltri, Eric Karlins, Lingwen Zhang, Zhiwen Li, Kathleen Jevtich, Yunting Yu, Haley Hullfish, Bibi Bielekova, Pamela A. Frischmeyer‐Guerrerio, An Dang, Laryssa A. Huryn, Kenneth N. Olivier, Helen C. Su, Jonathan J. Lyons, Christa S. Zerbe, V. Koneti Rao, Michael D. Keller, Alexandra F. Freeman, Steven M. Holland, Luis M. Franco, Magdalena Walkiewicz, Jia Yan   +34 more
openalex   +1 more source

IKAROS Associated Immunodeficiency and Thrombotic Thrombocytopenic Purpura

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pathogenic variants in IKZF1 (IKAROS) are linked to immunodeficiency, malignancy, and immune dysregulation. We describe a family with a rare IKZF1 variant presenting with humoral immunodeficiency and thrombotic thrombocytopenic purpura (TTP). A non‐consanguineous family was clinically monitored; clinical, immunological, and genetic data (exome
Ilia Spivak, Daniella Magen, Karin Weiss, Tamar Paperna, Suhair Hanna, Amos Etzioni, Adi Miller‐Barmak, Yonatan Butbul Aviel   +7 more
wiley   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

The use of next generation sequencing technologies for the diagnosis of inborn errors of immunity

, 2023
Ekaterina Polyakova, Irina Guryanova, Vladislav Vertelko, Aliaksandr Liubushkin, Katsiaryna Y. Skapavets, Svetlana Aleshkevich, Yu. S. Zharankova, Svetlana Sharapova, Mikhail Belevtsev   +8 more
openalex   +2 more sources

Next‐generation sequencing in newborn screening: Current status, challenges, and future perspectives

Pediatric Investigation, EarlyView.
Newborn screening shifts from biochemical to genetic methods. Global exploration is promising but requires overcoming challenges and international collaboration to optimize implementation. ABSTRACT Newborn screening (NBS) is a key public health intervention that improves children's health outcomes by enabling precise intervention through the early ...
Zhelan Huang, Wenhao Zhou
wiley   +1 more source

Neoclassical development of genetic sexing strains for insect pest and disease vector control

Insect Science, EarlyView.
The sterile insect technique has been effectively used for decades, and an important component is the availability of sex separation systems, in particular genetic sexing strains. Classical approaches, such as irradiation‐induced chromosomal translocations, have yielded stable strains for species like the Mediterranean fruit fly.
Giovanni Petrucci, Maria‐Eleni Gregoriou, Philippos Aris Papathanos, Marc F. Schetelig, Zhijian Tu, Kostas Bourtzis   +5 more
wiley   +1 more source

The Immune Deficiency and Dysregulation Activity (IDDA2.1 ‘Kaleidoscope’) Score and Other Clinical Measures in Inborn Errors of Immunity [PDF]

, 2021
Markus G. Seidel, Victoria K. Tesch, Linlin Yang, Fabian Hauck, Anna Lena Horn, Maria Anna Smolle, Franz Quehenberger, Martin Benesch   +7 more
openalex   +1 more source

B‐Cell Repertoire of Children With Atopic Dermatitis Exhibits Altered IgE Maturation Associated With Allergic Food Sensitization

Allergy, EarlyView.
IgH repertoire sequencing of a large atopic dermatitis cohort reveal reduced IgE somatic hypermutation and increased IgE diversity associated with food allergen sensitization. Presence of a dog during the first year of life is associated with increased IgE somatic hypermutation, possibly countering the effect of food sensitization.
Kirandeep K. Gill, Carolina Moore, Onyekachi Nwogu, John W. Kroner, Wan‐Chi Chang, Jeffrey Burkle, Samuel J. Virolainen, Mariana L. Stevens, Asel Baatyrbek, Emily R. Miraldi, Jocelyn M. Biagini, Ashley L. Devonshire, Leah Kottyan, Justin T. Schwartz, Amal H. Assa'ad, Lisa J. Martin, Sandra Andorf, Gurjit K. Khurana Hershey, Krishna M. Roskin   +18 more
wiley   +1 more source

Current genetic diagnostics in inborn errors of immunity

Frontiers in Pediatrics
New technologies in genetic diagnostics have revolutionized the understanding and management of rare diseases. This review highlights the significant advances and latest developments in genetic diagnostics in inborn errors of immunity (IEI), which ...
Sandra von Hardenberg, Isabel Klefenz, Doris Steinemann, Nataliya Di Donato, Ulrich Baumann, Bernd Auber, Christian Klemann, Christian Klemann   +7 more
doaj   +1 more source

Functional genomics in inborn errors of immunity

Immunological Reviews
SummaryInborn errors of immunity (IEI) comprise a diverse spectrum of 485 disorders as recognized by the International Union of Immunological Societies Committee on Inborn Error of Immunity in 2022. While IEI are monogenic by definition, they illuminate various pathways involved in the pathogenesis of polygenic immune dysregulation as in autoimmune or ...
Charlotte Hurabielle, Taylor N. LaFlam, Melissa Gearing, Chun Jimmie Ye   +3 more
openaire   +3 more sources